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Article

Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation.

EMBO reports - 1 Nov 2004

Nissim-Rafinia Malka, Aviram Micha, Randell Scott H, Shushi Liat, Ozeri Efrat, Chiba-Falek Ornit, Eidelman Ofer, Pollard Harvey B, Yankaskas James R, Kerem Batsheva

Abstract excerpt

A significant fraction of disease-causing mutations affects pre-mRNA splicing. These mutations can generate both aberrant and correct transcripts, the level of which varies among different patients. An inverse correlation was found between this level and disease severity, suggesting a role for splicing regulation as a genetic modifier. Overexpression of splicing factors increased the level of correctly spliced...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15472711
DOI: 10.1038/sj.embor.7400273
PMCID: PMC1299168

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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